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NM_001098537.3(PNPLA7):c.1672G>A (p.Val558Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004221616.1

Allele description [Variation Report for NM_001098537.3(PNPLA7):c.1672G>A (p.Val558Met)]

NM_001098537.3(PNPLA7):c.1672G>A (p.Val558Met)

Genes:
LOC108281113:9q34.3 PNPLA7 recombination region [Gene]
PNPLA7:patatin like phospholipase domain containing 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_001098537.3(PNPLA7):c.1672G>A (p.Val558Met)
HGVS:
  • NC_000009.12:g.137500776C>T
  • NG_051054.1:g.495C>T
  • NM_001098537.3:c.1672G>AMANE SELECT
  • NM_152286.5:c.1597G>A
  • NP_001092007.2:p.Val558Met
  • NP_689499.4:p.Val533Met
  • NC_000009.11:g.140395228C>T
  • NM_001098537.1:c.1672G>A
Protein change:
V533M
Molecular consequence:
  • NM_001098537.3:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152286.5:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003733673Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 26, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003733673.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1672G>A (p.V558M) alteration is located in exon 16 (coding exon 16) of the PNPLA7 gene. This alteration results from a G to A substitution at nucleotide position 1672, causing the valine (V) at amino acid position 558 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024